ClinVar Miner

Submissions for variant NM_006432.4(NPC2):c.292A>C (p.Asn98His) (rs142858704)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000439975 SCV000511121 uncertain significance not provided 2017-01-16 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Fulgent Genetics,Fulgent Genetics RCV000763943 SCV000894889 uncertain significance Niemann-Pick disease type C2 2018-10-31 criteria provided, single submitter clinical testing

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